Literature DB >> 30206351

Reply to Sönmez et al.

Mélanie Rama1, Isabelle Touitou1,2, Guillaume Sarrabay3,4.   

Abstract

Mesh：

Year:  2018        PMID： 30206351      PMCID： PMC6189082          DOI： 10.1038/s41431-018-0242-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  7 in total

Review 1.  Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.

Authors:  Yackov Berkun; Reeval Segel; Paulina Navon-Elkan
Journal:  Isr Med Assoc J       Date:  2017-07       Impact factor: 0.892

2.  Mutant ADA2 in vasculopathies.

Authors:  Joris van Montfrans; Andrey Zavialov; Qing Zhou
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

3.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

4.  A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Authors:  Mélanie Rama; Claire Duflos; Isabelle Melki; Didier Bessis; Axelle Bonhomme; Hélène Martin; Diane Doummar; Stéphanie Valence; Diana Rodriguez; Emilie Carme; David Genevieve; Ketil Heimdal; Antonella Insalaco; Nathalie Franck; Viviane Queyrel-Moranne; Nathalie Tieulie; Jonathan London; Florence Uettwiller; Sophie Georgin-Lavialle; Alexandre Belot; Isabelle Koné-Paut; Véronique Hentgen; Guilaine Boursier; Isabelle Touitou; Guillaume Sarrabay
Journal:  Eur J Hum Genet       Date:  2018-04-23       Impact factor: 4.246

5.  Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.

Authors:  Hasan Hashem; Rachel Egler; Jignesh Dalal
Journal:  J Pediatr Hematol Oncol       Date:  2017-07       Impact factor: 1.289

6.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

7.  Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Authors:  Tal Ben-Ami; Shoshana Revel-Vilk; Rebecca Brooks; Avraham Shaag; Michael S Hershfield; Susan J Kelly; Nancy J Ganson; Shlomit Kfir-Erenfeld; Michael Weintraub; Orly Elpeleg; Yackov Berkun; Polina Stepensky
Journal:  J Pediatr       Date:  2016-08-08       Impact factor: 4.406
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.